This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014] See more...
Aliases for TMEM114 Gene
External Ids for TMEM114 Gene
- HGNC: 33227
- Entrez Gene: 283953
- Ensembl: ENSG00000232258
- OMIM: 611579
- UniProtKB: B3SHH9
Previous GeneCards Identifiers for TMEM114 Gene
- GC16U900672
- GC16M008560
- GC16M008620
Summaries for TMEM114 Gene
-
This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
GeneCards Summary for TMEM114 Gene
TMEM114 (Transmembrane Protein 114) is a Protein Coding gene. Diseases associated with TMEM114 include Cataract. An important paralog of this gene is TMEM235.
Additional gene information for TMEM114 Gene
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM114 Gene
Genomics for TMEM114 Gene
GeneHancer (GH) Regulatory Elements for TMEM114 Gene
Promoters and enhancers for TMEM114 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH16J008590 | Enhancer | 0.2 | Ensembl | 750.6 | -0.2 | -244 | 0.5 | TMEM114 piR-45035-074 | ||
| GH16J008631 | Promoter/Enhancer | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 11.2 | -42.6 | -42567 | 2 | CREB1 CTCF TCF12 FOS GABPA HOMEZ | C16orf72 METTL22 TMEM114 USP7 HSALNG0109411 lnc-ABAT-8 | |
| GH16J008655 | Enhancer | 1 | Ensembl ENCODE | 11.7 | -65.2 | -65208 | 0.8 | ZNF24 CTCF RBPJ MAX RAD21 ELF3 MLLT1 CREM KAT8 IKZF1 | TMEM114 RNU7-63P piR-38352-211 lnc-ABAT-2 METTL22 | |
| GH16J008635 | Enhancer | 0.8 | ENCODE dbSUPER | 11 | -45.3 | -45346 | 0.2 | CTCF ELF3 CEBPG CREB1 REST ATF1 ZNF316 NFE2 MAFG MAFK | TMEM114 HSALNG0109411 lnc-ABAT-8 METTL22 | |
| GH16J008537 | Enhancer | 0.8 | ENCODE | 11.3 | +52.4 | 52418 | 1.3 | NR2F6 ATF1 CREB1 MIXL1 HLF ELF3 SP1 CEBPG HNF1A CEBPA | TMEM114 ENSG00000261066 piR-50437-230 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TMEM114 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TMEM114 gene promoter:
-
- CREB
- deltaCREB
- E47
- ER-alpha
- GATA-1
- LyF-1
- RFX1
- RREB-1
- YY1
- Zic1
Genomic Locations for TMEM114 Gene
Genomic Locations for TMEM114 Gene
- chr16:8,526,549-8,590,193
- (GRCh38/hg38)
- Size:
- 63,645 bases
- Orientation:
- Minus strand
- chr16:8,619,502-8,622,304
- (GRCh37/hg19)
- Size:
- 2,803 bases
- Orientation:
- Minus strand
Genomic View for TMEM114 Gene
Genes around TMEM114 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.2 by HGNC
- 16p13.2 by Entrez Gene
- 16p13.2 by Ensembl
TMEM114 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TMEM114 Gene
Proteins for TMEM114 Gene
-
Protein details for TMEM114 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- B3SHH9-TM114_HUMAN
- Recommended name:
- Transmembrane protein 114
- Protein Accession:
- B3SHH9
Protein attributes for TMEM114 Gene
- Size:
- 223 amino acids
- Molecular mass:
- 24166 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for TMEM114 Gene
Other Protein References for TMEM114 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TMEM114
- Invitrogen Antibodies for TMEM114 (AFLGC-TMEM114)
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TMEM114
- Origene Custom Protein Services for TMEM114
No data available for DME Specific Peptides for TMEM114 Gene
Domains & Families for TMEM114 Gene
Gene Families for TMEM114 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for TMEM114 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TMEM114 Gene
- GenScript: Design optimal peptide antigens:
-
- Transmembrane protein 114 (TM114_HUMAN)
Graphical View of Domain Structure for InterPro Entry
B3SHH9- Family:
-
- Belongs to the PMP-22/EMP/MP20 family.
Function for TMEM114 Gene
Phenotypes From GWAS Catalog for TMEM114 Gene
Phenotypes for TMEM114 Gene
- MGI mutant phenotypes for TMEM114:
- inferred from 1 alleles
Animal Models for TMEM114 Gene
- MGI Knock Outs for TMEM114:
-
- Tmem114 Tmem114<tm1.1(KOMP)Vlcg>
Animal Model Products
-
Taconic Biosciences Mouse Models for TMEM114
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMEM114 - Select products 50% OFF >
- * TMEM114 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TMEM114 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for TMEM114
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-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM114
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for TMEM114 - Select products 50% OFF >
- * TMEM114 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * TMEM114 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for TMEM114
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM114
- genomics-online: cdna clones - Search results for available TMEM114 gene related products
- orf clones - Search results for available TMEM114 gene related products
Cell Line Products
-
Horizon Cell Lines for TMEM114
No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for TMEM114 Gene
Localization for TMEM114 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TMEM114 Gene
- Cell membrane; Multi-pass membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0016324 | apical plasma membrane | IEA,IBA | 21873635 |
| GO:0016327 | apicolateral plasma membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM114 Gene
Pathways & Interactions for TMEM114 Gene
Interacting Proteins for TMEM114 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| EMP1 |
GPS-Prot Interaction Network for TMEM114
No data available for Pathways by source and SIGNOR curated interactions for TMEM114 Gene
Transcripts for TMEM114 Gene
mRNA/cDNA for TMEM114 Gene
- (4) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (38) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000444171 516 bps (ENST00000444171.1)
- ENST00000568335 899 bps (ENST00000568335.3)
- ENST00000620492 945 bps (ENST00000620492.4)
- ENST00000623677 434 bps (ENST00000623677.1)
- ENST00000624696 560 bps (ENST00000624696.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMEM114 - Select products 50% OFF >
- * TMEM114 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TMEM114 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for TMEM114
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM114
- genomics-online: gRNA clones - Search results for available TMEM114 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM114
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TMEM114
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Clone Products
- Applied Biological Materials (abm): Clones for TMEM114 - Select products 50% OFF >
- * TMEM114 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * TMEM114 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for TMEM114
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM114
- genomics-online: cdna clones - Search results for available TMEM114 gene related products
- orf clones - Search results for available TMEM114 gene related products
Expression for TMEM114 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Pre-Sertoli Cells Testis Cord
-
Ovary (Reproductive System)
- Granulosa Cells Primary Follicle
mRNA differential expression in normal tissues according to GTEx for TMEM114 Gene
This gene is overexpressed in Brain - Hypothalamus (x29.5) and Pituitary (x6.2).
NURSA nuclear receptor signaling pathways regulating expression of TMEM114 Gene:
TMEM114SOURCE GeneReport for Unigene cluster for TMEM114 Gene:
Hs.150849Evidence on tissue expression from TISSUES for TMEM114 Gene
- Eye(4.1)
- Lung(2.1)
Primer Products
-
OriGene qPCR primer pairs for TMEM114
- genomics-online: primer clones - Search results for available TMEM114 gene related products
Gene Expression Assay Products
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM114 Gene
Orthologs for TMEM114 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TMEM114 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | TMEM114 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TMEM114 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Tmem114 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Cldn26 33 32 |
|
OneToOne | |
| Tmem114 17 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM114 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TMEM114 33 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TMEM114 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | TMEM114 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tmem114 32 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC100150208 32 |
|
||
| TMEM114 33 |
|
OneToOne |
- Species where no ortholog for TMEM114 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for TMEM114 Gene
- ENSEMBL:
- Gene Tree for TMEM114 (if available)
- TreeFam:
- Gene Tree for TMEM114 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TMEM114: view image
Paralogs for TMEM114 Gene
Variants for TMEM114 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000006730 | -- | 8,547,523(-) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000058528 | -- | 8,549,275(-) | G/A | genic_downstream_transcript_variant, intron_variant | |
| rs1000157724 | -- | 8,550,573(-) | G/C | genic_downstream_transcript_variant, intron_variant | |
| rs1000234139 | -- | 8,581,143(-) | A/G | intron_variant | |
| rs1000239569 | -- | 8,536,438(-) | T/A | genic_downstream_transcript_variant, intron_variant |
Additional Variant Information for TMEM114 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for TMEM114 Gene
Disorders for TMEM114 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cataract |
|
|
Search TMEM114 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TM114_HUMAN- Note=Chromosomal aberrations involving TMEM114 may be a cause of congenital and juvenile cataracts. Translocation t(16;22) (p13.3;q11.2). {ECO:0000269 PubMed:17492639}.
Additional Disease Information for TMEM114
No data available for Genatlas for TMEM114 Gene
Publications for TMEM114 Gene
- The cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family members. (PMID: 21689651) Maher GJ … Manson FD (FEBS letters 2011) 2 3 4 56
- Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. (PMID: 17492639) Jamieson RV … Black GC (Human mutation 2007) 2 3 4 56
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
- Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract. (PMID: 24357539) Gai D … Yu S (American journal of medical genetics. Part A 2014) 3 56
- The CTRB1/2 locus affects diabetes susceptibility and treatment via the incretin pathway. (PMID: 23674605) 't Hart LM … Diamant M (Diabetes 2013) 3 56
ExternalLinks
Products for TMEM114 Gene
- Custom Antibody ServicesOriGene Antibodies for TMEM114
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for TMEM114
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Taconic Biosciences Mouse Models for TMEM114
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- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for TMEM114 (AFLGC-TMEM114)
- Horizon Cell Lines for TMEM114
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Sources for TMEM114 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource